By summarizing the reported literatures of SCN4A -related myotonia
and accompany symptoms of scoliosis and peripheral contractures, we have a new understanding to the genotype-phenotype correlations of SCN4A .
1: ADR disfagico, 2: and absence of disfagico, 3: not dysphagia; 2: ADR with symptoms of CNS and presence of involvement, 4: dysphagia showing congenital requiring VA and myotonia
for the 3: PAIR and study of the effects presence of of myotonia
The patient was a 59-year man suffering from congenital myotonia
Esophageal and pulmonary disturbances in myotonia
However, the electrical activity often lacks the waxing and waning quality of true electrical myotonia
and might be better described as complex, repetitive discharges.
is a burst of excess electrical signals in the cell membrane, and is related to defects in voltage-gated sodium ion channels.
The classical symptoms are myotonia
, muscle atrophy, cataract and a characteristic facial appearance (1, 2).
1% aura hemiplegic migraine Myotonia
Becker generalized 8 930 0.
On motor examination, she had normal strength, tone and bulk of muscles and there was no grip myotonia
When a goat with myotonia
is frightened by a loud noise, its muscles contract and its legs go stiff.
Colchicine use is associated with a variety of neuromuscular complications, including generalized myopathy, painful neuromyopathy, rhabdomyolysis, and, rarely, clinical and electrophysiologic myotonia
The peculiar "Tennessee Wooden Leg" suffers from "hereditary myotonia
," a condition that incites its muscles to stiffen when frightened; this can cause the goat to fall over, and is why this bread is sometimes referred to as the "fainting goat.
The drug inhibits the vicious cycle of myotonia
by decreasing pain, ischemia and hypertonia in skeletal muscles, thus alleviating stiffness and spasticity, and facilitating muscle movements (5-7).
CBS domains in CIC chloride channels implicated in myotonia
and nephrolithiasis (kidney stones).
The patient exhibited no signs of myotonia
or systemic bony abnormalities.